Canonical Allele Identifier: CA10623720
Gene: SGCD HGNC NCBI

Linked Data

ClinVar Variation Id: 352451
ClinVar RCV Id: RCV000280506 RCV000334289 RCV000372687
dbSNP Id: rs397736317
gnomAD v2: 5-156194495-G-GAA
gnomAD v3: 5-156767484-G-GAA
gnomAD v4: 5-156767484-G-GAA
MyVariant Identifiers: chr5:g.156194514_156194515dupAA (hg19) chr5:g.156194497_156194498insAA (hg19) chr5:g.156194495_156194496insAA (hg19) chr5:g.156767503_156767504dupAA (hg38) chr5:g.156767486_156767487insAA (hg38) chr5:g.156767484_156767485insAA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.156767503_156767504dup , CM000667.2:g.156767503_156767504dup GRCh38
NC_000005.9:g.156194514_156194515dup , CM000667.1:g.156194514_156194515dup GRCh37
NC_000005.8:g.156127092_156127093dup NCBI36
NG_008693.2:g.902161_902162dup , LRG_205:g.902161_902162dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000337851.9:c.*8113_*8114dup MANE Select ENSP00000338343.4:n.*8113_*8114dup
ENST00000435422.7:c.*8113_*8114dup ENSP00000403003.2:n.*8113_*8114dup
NM_000337.5:c.*8113_*8114dup , LRG_205t1:c.*8113_*8114dup NP_000328.2:n.*8113_*8114dup
NM_001128209.1:c.*8113_*8114dup NP_001121681.1:n.*8113_*8114dup
XM_005265966.3:c.*8113_*8114dup XP_005266023.1:n.*8113_*8114dup
XM_006714911.2:c.*8113_*8114dup XP_006714974.1:n.*8113_*8114dup
XM_011534621.1:c.*8113_*8114dup XP_011532923.1:n.*8113_*8114dup
NM_001128209.2:c.*8113_*8114dup NP_001121681.1:n.*8113_*8114dup
NM_000337.6:c.*8113_*8114dup MANE Select NP_000328.2:n.*8113_*8114dup
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